HR c.2347G>A ;(p.V783I)

Variant ID: 8-21978598-C-T

NM_005144.4(HR):c.2347G>A;(p.V783I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; BalmaƱa, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: HR: V783I
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



The Immune Landscape of Chinese Head and Neck Adenoid Cystic Carcinoma and Clinical Implication.

Frontiers In Immunology
Dou, Shengjin S; Li, Rongrong R; He, Ning N; Zhang, Menghuan M; Jiang, Wen W; Ye, Lulu L; Yang, Yining Y; Zhao, Guodong G; Yang, Yadong Y; Li, Jiang J; Chen, Di D; Zhu, Guopei G
Publication Date: 2021

Variant appearance in text: HR: 2347G>A; V783I
PubMed Link: 34552580
Variant Present in the following documents:
  • DataSheet_4.xlsx, sheet 2
View BVdb publication page